Dr Emmanuel Favaloro’s passion and expertise lie in bleeding disorder diagnosis and better patient care.

Peo­ple with these dis­or­ders bleed exces­sive­ly.  With up to 1% of the world’s pop­u­la­tion poten­tial­ly suf­fer­ing from von Wille­brand dis­ease (VWD) accord­ing to epi­demi­o­log­i­cal stud­ies, it is con­sid­ered by far to be the most com­mon bleed­ing dis­or­der. How­ev­er, since most peo­ple expe­ri­ence very mild symp­toms, it is esti­mat­ed that glob­al­ly as many as 9 out of 10 peo­ple with VWD have not been diagnosed.

Dr Faval­oro is a Lab­o­ra­to­ry Sci­en­tist at NSW Health Pathol­o­gy, West­mead ICPMR who spe­cialis­es in lab­o­ra­to­ry test­ing for clot­ting dis­or­ders, includ­ing von Wille­brand dis­ease (VWD).  Accord­ing to a recent study, Emmanuel is the most pro­lif­ic author on von Wille­brand Disease.

“When we talk about bleed­ing dis­or­ders, most peo­ple think about Haemophil­ia,” he said.

Haemophil­ia A and B are char­ac­terised by a reduc­tion in the func­tion of the pro­teins Fac­tor VIII or Fac­tor IX, which are impor­tant for blood clot­ting. VWD is defined as the lack of or reduced func­tion of a pro­tein called von Wille­brand Fac­tor (VWF) in our blood.

VWF has sev­er­al pur­pos­es. Fol­low­ing injury, VWF in your blood plas­ma attach­es to platelets and helps to clump them togeth­er to immo­bilise them. VWF also binds to the injured tis­sue itself to help form a ‘platelet plug’ or ‘platelet clot’ to block the hole and stop bleeding.

Peo­ple with VWD either don’t have any VWF, have less VWF or the VWF doesn’t work prop­er­ly, so they con­tin­ue to bleed.

Symp­toms can include:

• Exces­sive bleed­ing from cuts or surgery
• bleed­ing from the gums dur­ing den­tal work
• fre­quent nose­bleeds that do not stop with­in 10 minutes
• heavy or long men­stru­al bleeding
• heavy bleed­ing dur­ing childbirth
• blood in urine or stool
• bruis­ing eas­i­ly or lumpy bruises.

Surgery is one of the key con­cerns for peo­ple with VWD because of the increased risk of bleed­ing dur­ing these pro­ce­dures. If a patient has VWD, their health­care team must know in advance so they can pre­pare and man­age any poten­tial bleed­ing. Doc­tors use med­ical his­to­ries to screen patients who may need test­ing for VWD.

VWD is hard­er to detect than Haemophil­ia since VWF per­forms sev­er­al roles in our bodies.

Emmanuel and his team focus on improv­ing the diag­nos­tic struc­ture for VWD using a pan­el of tests.

“We use a vari­ety of func­tion­al tests for a more holis­tic approach to diag­no­sis VWD – a mul­ti-pronged approach.”

VWD tests have been around for decades. One of the first tests dates back to the 1960s.

“That orig­i­nal test is not in itself a bad test, but it has issues with repro­ducibil­i­ty and low lev­el VWF detec­tion, mak­ing it less accu­rate. If only that test is used, it is pos­si­ble that some peo­ple with VWD will go undi­ag­nosed or else be misdiagnosed.”

Today, we use half a dozen dif­fer­ent tests to deter­mine the lev­el and activ­i­ty of VWF. We refer to them as pan­els of tests or assays.

“Our NSW Health Pathol­o­gy lab­o­ra­to­ries can inves­ti­gate sev­er­al dif­fer­ent aspects of VWF. To diag­nose VWD, we use sev­er­al tests. Each is designed to check the dif­fer­ent func­tions of VWF.”

There are six dif­fer­ent vari­ants of VWD.

“Our tests look at how well VWF binds to platelets and a pro­tein (col­la­gen) in dam­aged tis­sue, while anoth­er looks at how well VWF binds to the pro­tein (fac­tor VIII) that is also miss­ing in Haemophil­ia A. Anoth­er test looks at the struc­ture of VWF.

“We have a reper­toire of tests avail­able to us. Most of our research aims to improve how we diag­nose bleed­ing dis­eases such as VWD so that clin­i­cians can diag­nose patients, and then man­age them cor­rect­ly. We can also deter­mine which vari­ant of VWD a per­son has.”

Cur­rent­ly, there is no genet­ic cure for VWD, but clin­i­cians help patients man­age their symp­toms with var­i­ous therapies.

Emmanuel has done a lot of research on diag­nos­tic approach­es for VWD.

“I pub­lished my first research on VWD back in 1991. Since then, I’ve pub­lished over 100 papers on the topic.”

His work has inter­na­tion­al impli­ca­tions too.

“When you look at VWD diag­no­sis around the world, it’s not diag­nosed very well, par­tic­u­lar­ly in devel­op­ing coun­tries where VWD is sig­nif­i­cant­ly underestimated.”

Accord­ing to the World Fed­er­a­tion for Haemophil­ia, Aus­tralia iden­ti­fies 100% of patients sus­pect­ed of hav­ing VWD. The USA iden­ti­fies 50–70% of their esti­mat­ed patients with VWD, and iden­ti­fi­ca­tion rates are less than 10% in devel­op­ing countries.

Our role in pathol­o­gy is to make sure that we can facil­i­tate the diag­no­sis of every­one with VWD so that clin­i­cians can best man­age their risk of bleeding.

And researchers like Emmanuel are vital in this role.

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